A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281645



Internal ID22199660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:29035534..29107883hg38UCSC Ensembl
Outerchr9:29035532..29107881hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg3872350
hg1972350
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228355
Supporting Variants
SamplesHG00732
Known GenesLINGO2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281645
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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